NCT02461420Active, not recruiting
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
Source: ClinicalTrials.gov · Last updated 6 Aug 2026
Brief summary (registry, in English)
The purpose of this study is to comprehensively characterize PMS using standardized medical, cognitive, and behavioral measures and to track the natural history of the syndrome using repeated longitudinal assessments. In addition, this study will be aiming to identify biomarkers using neuroimaging, including diffusion tensor imaging and identify genetic factors which contribute to diverse phenotypes in patients with PMS.
- Status (registry)
- Active, not recruiting
- Study type
- Observational
- Enrollment
- 207 (actual)
- First submitted
- 11 May 2015
- Start date
- May 2015
- Primary completion date
- Dec 2025
- Lead sponsor
- Boston Children's Hospital
- Diseases
- Autism
- NCT number
- NCT02461420
What you commit to
- Study type: Observational
- Participants enrolled: 207
- From May 2015 to the primary completion date, Dec 2025
- 5 sites in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- Has taken an investigational drug as part of another research study, within 30 days prior to study enrollment
Other illness
- For subjects involved in imaging biomarker assessment: contraindications to 3T MRI scanning, such as metal implants/non-compatible medical devices or medical conditions, including vagus nerve stimulator
Age
- For subjects involved in EEG/ ERP biomarker assessment: contraindications to EEG/ERP, such as uncooperative or destructive behaviors preventing lead placement or capture by ERP/VEP equipment. Under age 2 or over age 11 at the time of enrollment.
Other
- Unwilling or unable to comply with study procedures and assessments
Who the study is looking for
- Individuals older than 18 months of age with pathogenic deletions or mutations of the SHANK3 gene
- English speaking individuals
Age in the registry: 18 months to - · Sex: All · Accepts healthy volunteers
Sites (5)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| National Institutes of Health Coordinator of this site? Confirm its status | Bethesda | United States | Unknown status |
| Boston Children's Hospital Coordinator of this site? Confirm its status | Boston | United States | Unknown status |
| Rush University Medical Center Coordinator of this site? Confirm its status | Chicago | United States | Unknown status |
| Icahn School of Medicine at Mount Sinai Coordinator of this site? Confirm its status | New York | United States | Unknown status |
| Stanford University Coordinator of this site? Confirm its status | Stanford | United States | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.